Genomic coordinate (human 10:98,413,948 HPS1) & (mouse 19:42,743,544 Hps1).
Cytoband (human 10q24.2 HPS1) & (mouse 19qC3 Hps1).
Here I present: “Hermansky-Pudlak Syndrome“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (HPS1) icd10=E70.331
Hermansky-Pudlak syndrome (HPS) is a autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes.
🧬 What is Hermansky-Pudlak Syndrome?
Hermansky-Pudlak syndrome (HPS) is a genetic multisystem disorder characterized by a combination of features including:
• Oculocutaneous albinism — reduced pigment in the skin, hair and eyes, often leading to light coloring and visual issues such as nystagmus, photophobia, foveal hypoplasia and reduced visual acuity.
• Bleeding diathesis — a bleeding tendency due to a defect in platelet storage pool (lack of dense granules), leading to easy bruising and prolonged bleeding with injuries or surgery.
• Additional complications in some individuals may include pulmonary fibrosis (scarring of lung tissue), granulomatous colitis (inflammatory bowel disease), neutropenia or immunodeficiency.
There is evidence that Hermansky-Pudlak syndrome-1 in caused by mutation in the (HPS1) gene encoded on genomic coordinate 10:98,413,948 and cytoband 10q24.2 in humans.
BLOC-3 complex (Biogenesis of Lysosome-related Organelles Complex-3) is a vital protein assembly, primarily composed of HPS1 and HPS4, crucial for directing lysosomes and other cell-specific compartments (like melanosomes) to their correct locations and for proper function, with defects leading to Hermansky-Pudlak Syndrome.
